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Journal Abstract Search

170 related items for PubMed ID: 16763962

  • 1. A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.
    Wada T, Fukushima Y, Saitoh S.
    Am J Med Genet A; 2006 Jul 15; 140(14):1519-23. PubMed ID: 16763962
    [Abstract] [Full Text] [Related]

  • 2. Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
    Wada T, Sugie H, Fukushima Y, Saitoh S.
    Am J Med Genet A; 2005 Sep 15; 138(1):18-20. PubMed ID: 16100724
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the chromatin-associated protein ATRX.
    Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J.
    Hum Mutat; 2008 Jun 15; 29(6):796-802. PubMed ID: 18409179
    [Abstract] [Full Text] [Related]

  • 4. [X-linked alpha-thalassemia/mental retardation syndrome].
    Wada T.
    Rinsho Byori; 2009 Apr 15; 57(4):382-90. PubMed ID: 19489441
    [Abstract] [Full Text] [Related]

  • 5. Partial duplications of the ATRX gene cause the ATR-X syndrome.
    Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K.
    Eur J Hum Genet; 2007 Oct 15; 15(10):1094-7. PubMed ID: 17579672
    [Abstract] [Full Text] [Related]

  • 6. Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
    Lacoste C, Leheup B, Agouti I, Mowat D, Giuliano F, Badens C.
    Clin Genet; 2014 Nov 15; 86(5):502-3. PubMed ID: 24289169
    [No Abstract] [Full Text] [Related]

  • 7. Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.
    Al-Nafie AN, Borgio JF, AbdulAzeez S, Al-Suliman AM, Qaw FS, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Ali RA, AlKhalifah MA, Al-Muhanna F, Steinberg MH, Al-Ali AK.
    Blood Cells Mol Dis; 2015 Jun 15; 55(1):27-9. PubMed ID: 25976463
    [Abstract] [Full Text] [Related]

  • 8. [ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].
    Giuliano F, Badens C, Richelme C, Levy N, Lambert JC.
    Arch Pediatr; 2005 Sep 15; 12(9):1372-5. PubMed ID: 16125058
    [Abstract] [Full Text] [Related]

  • 9. A novel splicing mutation of the ATRX gene in ATR-X syndrome.
    Wada T, Sakakibara M, Fukushima Y, Saitoh S.
    Brain Dev; 2006 Jun 15; 28(5):322-5. PubMed ID: 16376512
    [Abstract] [Full Text] [Related]

  • 10. [Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].
    Lin SB, Sun HY, Song XM, Chen LM, Du ML, Chen Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Dec 15; 30(6):654-8. PubMed ID: 24327140
    [Abstract] [Full Text] [Related]

  • 11. ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
    Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P.
    Am J Med Genet A; 2006 Oct 15; 140(20):2212-5. PubMed ID: 16955409
    [Abstract] [Full Text] [Related]

  • 12. Partial ATRX gene duplication causes ATR-X syndrome.
    Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ.
    Am J Med Genet A; 2009 Oct 15; 149A(10):2317-20. PubMed ID: 19764021
    [No Abstract] [Full Text] [Related]

  • 13. A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
    Shimbo H, Ninomiya S, Kurosawa K, Wada T.
    J Hum Genet; 2014 Jul 15; 59(7):408-10. PubMed ID: 24898829
    [Abstract] [Full Text] [Related]

  • 14. Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.
    Borgione E, Sturnio M, Spalletta A, Angela Lo Giudice M, Castiglia L, Galesi O, Ragusa A, Fichera M.
    Hum Mutat; 2003 May 15; 21(5):529-34. PubMed ID: 12673795
    [Abstract] [Full Text] [Related]

  • 15. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
    Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L.
    Am J Med Genet A; 2017 May 15; 173(5):1390-1395. PubMed ID: 28371217
    [Abstract] [Full Text] [Related]

  • 16. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.
    Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH.
    Gene; 2015 Sep 15; 569(2):318-22. PubMed ID: 25936994
    [Abstract] [Full Text] [Related]

  • 17. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
    Martínez F, Roselló M, Mayo S, Monfort S, Oltra S, Orellana C.
    Am J Med Genet A; 2014 Apr 15; 164A(4):918-23. PubMed ID: 24458433
    [Abstract] [Full Text] [Related]

  • 18. ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
    Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC.
    Indian J Med Res; 2011 Oct 15; 134(4):483-6. PubMed ID: 22089611
    [Abstract] [Full Text] [Related]

  • 19. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.
    Lugtenberg D, de Brouwer AP, Oudakker AR, Pfundt R, Hamel BC, van Bokhoven H, Bongers EM.
    Am J Med Genet A; 2009 Feb 15; 149A(4):760-6. PubMed ID: 19291773
    [Abstract] [Full Text] [Related]

  • 20. Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
    Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A.
    Indian J Med Res; 2016 Jan 15; 143(1):43-8. PubMed ID: 26997013
    [Abstract] [Full Text] [Related]

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